ClinGen Allele Registry
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Canonical Allele Identifier:
CA120577
Gene:
Linked Data - Expert Curation
ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
mitochondrial disease
VCEP
Mitochondrial Diseases VCEP
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chrMT:g.10010T>C
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010236
RCV003153299
ClinVar Variation:
9612
dbSNP:
121434476
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.10010T>C , J01415.2:m.10010T>C
GRCh38
Search 100 bp 5'
Search 100 bp 3'